What If? One Family's BRCA Mutation Story
Last month, in the midst of staffing the Union for Reform Judaism’s Biennial Convention in San Diego, I ran into a friend of my mom’s. She introduced me to the woman she was with as “Diana’s daughter.” Proud to wear the title, I was sad, too, that a BRCA mutation she didn’t even know she carried had cut short my mom’s life. Yet again, she was missing a Biennial gathering, and one of the things she loved most about them - connecting and reconnecting with so many friends and clergy in her beloved Reform Jewish family.
The next day, I got to do something about that.
No, of course I can’t bring my mom back, but I was honored to speak - together with Susan Domchek, MD, and Rabbi Marci Zimmerman - in a BRCA awareness session titled “Hereditary Cancer and the Jewish Community: Knowing Saves Lives.” The session was the outgrowth of last fall’s High Holidays BRCA awareness campaign sponsored by the Basser Research Center for BRCA that originally was the brainchild of Ellen Perl, a congregant of Rabbi Zimmerman’s and a breast cancer survivor.
Following opening remarks and a brief introduction of the panelists, Dr. Domchek provided a science-based overview of BRCA mutations, which are 10 times more prevalent among Ashkenazi Jews than they are within the general population. In addition to breast and ovarian cancer, she discussed other cancers associated with these genetic flaws, as well as the mutations’ autosomal dominant pattern of inheritance, which means that if just one parent is a mutation carrier, each child has a 50% chance of inheriting it from that parent. Short videos, detailing a few real women’s BRCA stories, rounded out her presentation.
Rabbi Zimmerman then spoke about the important role synagogues can and must play in raising awareness about BRCA mutations within the Jewish community, as well as the critical role of clergy and congregants in supporting other members and families who carry BRCA mutations, especially as they confront the physical and emotional challenges that can come with them.
Then it was my turn.
Ditching my prepared notes, I spoke from my heart, telling the group that my sister and I only learned the details about BRCA mutations because our mother died. Shortly after her death from exceedingly virulent triple negative breast cancer, with sparse knowledge of BRCA mutations on the periphery of our radar, we opted to pursue genetic counseling and testing - not only because she’d died from breast cancer, but also because her sister had previously been diagnosed with the disease many years earlier. (Thankfully, with a mastectomy and chemotherapy, our aunt is a sprightly 86 today!) Although my sister tested negative for a BRCA gene mutation, my results were positive for one of the three Jewish founder mutations carried by one in every 40 Ashkenazi Jews. (When she finally was tested last winter, our aunt, too, turned up positive. Her two grown sons - fathers to three young teens between them - have yet to be tested.)
What if, I wondered out loud, my mom had attended a session like this one six or eight or even 10 years ago? Would she have connected all the dots in our family, beginning with her father’s prostate cancer in the mid-1980s, a decade before the BRCA genes even were identified? Would her sister’s breast cancer - like her own, diagnosed relatively late in life - have raised a red flag? Would BRCA awareness have changed the trajectory of her life or others’ in our family, including mine?
What if, I wondered to myself - afraid even to formulate the thoughts in my head - we hadn’t been so lucky? Although my oncologist believes there may be some genetic factor protecting the BRCA-positive women in our family from early onset breast cancer, what if that factor, whatever it may be, wasn’t there? With virtually no indication that a mutation was lurking in our family’s genes, we might have lost our mother decades earlier, cheating her and us out of a whole lot of life and love. No less scary, I might have been forced to relinquish my previvor status to a non-prophylactic mastectomy or oophorectomy, radiation, chemotherapy or worse...
In my family, we can’t begin to answer these “what if” questions. But now, with my own risks well under control, these unanswered questions compel me to tell and retell my story often. It is my hope that this work of my heart will bring much needed awareness to other families whose members may, unbeknownst to them, be harboring BRCA gene mutations. It is my hope, too, that this information will reach them long before a mother, a wife or a sister dies and the survivors are obliged to confront the painful “what ifs.”
Even though the majority of Ashkenazi Jews are not BRCA mutation carriers and only five to 10% of all breast and ovarian cancers are caused by these mutations, it is important to know the possible signs of these hereditary cancers. These include a family member with:
- Ovarian or fallopian tube cancer at any age
- Breast cancer before age 50
- Breast cancer in both breasts at any age
- Both breast and ovarian cancer
- Triple negative breast cancer
- Male breast cancer
Other signs of HBOC syndrome include more than one relative on the same side of the family with any of these cancers:
- Breast cancer
- Ovarian or fallopian tube cancer
- Prostate cancer
- Pancreatic cancer
If you suspect that you or a family member may be affected by hereditary cancer caused by a BRCA mutation, you may wish to contact a genetic counselor, who is specially trained to assess individuals’ personal cancer risks and help determine appropriate risk management strategies. The National Society of Genetic Counselors can help you find genetic professionals in your area.